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rs104894502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894502(A;G)
Make rs104894502(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63060915
GeneTPM1
is asnp
is mentioned by
dbSNPrs104894502
ebirs104894502
HLIrs104894502
Exacrs104894502
Varsomers104894502
Maprs104894502
PheGenIrs104894502
hapmaprs104894502
1000 genomesrs104894502
hgdprs104894502
ensemblrs104894502
gopubmedrs104894502
geneviewrs104894502
scholarrs104894502
googlers104894502
pharmgkbrs104894502
gwascentralrs104894502
openSNPrs104894502
23andMers104894502
23andMe allrs104894502
SNP Nexus

SNPshotrs104894502
SNPdbers104894502
MSV3drs104894502
GWAS Ctlgrs104894502
Merged fromRs28934269
Max Magnitude0
see rs28934269, an equivalent SNP
OMIM191010
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894502(G,T;G,T)
Alt rs104894502(G,T;G,T)
Reference rs104894502(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 3 not provided
Variation info
Gene TPM1
CLNDBN Familial hypertrophic cardiomyopathy 3 not provided
Reversed 0
HGVS NC_000015.9:g.63353114A>G; NC_000015.9:g.63353114A>T
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant
CLNACC RCV000013271.24, RCV000159367.1, RCV000024576.1,


[PMID 8205619] Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.


[PMID 11603924] A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice.


[PMID 11044437] Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.